Chelly J - Search Results

1

ARX mutation in a boy with transsphenoidal encephalocele and hypopituitarism.

Van Esch H, Poirier K, de Zegher F, Holvoet M, Bienvenu T, Chelly J, Devriendt K, Fryns JP. Van Esch H, et al. Among authors: chelly j. Clin Genet. 2004 Jun;65(6):503-5. doi: 10.1111/j.1399-0004.2004.00256.x. Clin Genet. 2004. PMID: 15151512 No abstract available.

2

Maternal mosaicism for mutations in the ARX gene in a family with X linked mental retardation.

Poirier K, Abriol J, Souville I, Laroche-Raynaud C, Beldjord C, Gilbert B, Chelly J, Bienvenu T. Poirier K, et al. Among authors: chelly j. Hum Genet. 2005 Oct;118(1):45-8. doi: 10.1007/s00439-005-0011-2. Epub 2005 Oct 28. Hum Genet. 2005. PMID: 16078051

3

Screening of ARX in mental retardation families: Consequences for the strategy of molecular diagnosis.

Poirier K, Lacombe D, Gilbert-Dussardier B, Raynaud M, Desportes V, de Brouwer AP, Moraine C, Fryns JP, Ropers HH, Beldjord C, Chelly J, Bienvenu T. Poirier K, et al. Among authors: chelly j. Neurogenetics. 2006 Mar;7(1):39-46. doi: 10.1007/s10048-005-0014-0. Epub 2005 Oct 19. Neurogenetics. 2006. PMID: 16235064

4

Maternal origin of a novel C-terminal truncation mutation in CDKL5 causing a severe atypical form of Rett syndrome.

Nectoux J, Heron D, Tallot M, Chelly J, Bienvenu T. Nectoux J, et al. Among authors: chelly j. Clin Genet. 2006 Jul;70(1):29-33. doi: 10.1111/j.1399-0004.2006.00629.x. Clin Genet. 2006. PMID: 16813600

5

ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation.

Bienvenu T, Poirier K, Friocourt G, Bahi N, Beaumont D, Fauchereau F, Ben Jeema L, Zemni R, Vinet MC, Francis F, Couvert P, Gomot M, Moraine C, van Bokhoven H, Kalscheuer V, Frints S, Gecz J, Ohzaki K, Chaabouni H, Fryns JP, Desportes V, Beldjord C, Chelly J. Bienvenu T, et al. Among authors: chelly j. Hum Mol Genet. 2002 Apr 15;11(8):981-91. doi: 10.1093/hmg/11.8.981. Hum Mol Genet. 2002. PMID: 11971879

6

X-linked mental retardation, short stature, microcephaly and hypogonadism maps to Xp22.1-p21.3 in a Belgian family.

Van Esch H, Zanni G, Holvoet M, Borghgraef M, Chelly J, Fryns JP, Devriendt K. Van Esch H, et al. Among authors: chelly j. Eur J Med Genet. 2005 Apr-Jun;48(2):145-52. doi: 10.1016/j.ejmg.2005.01.016. Epub 2005 Feb 12. Eur J Med Genet. 2005. PMID: 16053905

7

The role of ARX in cortical development.

Friocourt G, Poirier K, Rakić S, Parnavelas JG, Chelly J. Friocourt G, et al. Among authors: chelly j. Eur J Neurosci. 2006 Feb;23(4):869-76. doi: 10.1111/j.1460-9568.2006.04629.x. Eur J Neurosci. 2006. PMID: 16519652 Review.

8

The ARX mutations: a frequent cause of X-linked mental retardation.

Nawara M, Szczaluba K, Poirier K, Chrzanowska K, Pilch J, Bal J, Chelly J, Mazurczak T. Nawara M, et al. Among authors: chelly j. Am J Med Genet A. 2006 Apr 1;140(7):727-32. doi: 10.1002/ajmg.a.31151. Am J Med Genet A. 2006. PMID: 16523516

9

Molecular genetics of Rett syndrome: when DNA methylation goes unrecognized.

Bienvenu T, Chelly J. Bienvenu T, et al. Among authors: chelly j. Nat Rev Genet. 2006 Jun;7(6):415-26. doi: 10.1038/nrg1878. Nat Rev Genet. 2006. PMID: 16708070 Review.

10

Rare polymorphic variants of the AGTR2 gene in boys with non-specific mental retardation.

Bienvenu T, Poirier K, Van Esch H, Hamel B, Moraine C, Fryns JP, Ropers HH, Beldjord C, Yntema HG, Chelly J. Bienvenu T, et al. Among authors: chelly j. J Med Genet. 2003 May;40(5):357-9. doi: 10.1136/jmg.40.5.357. J Med Genet. 2003. PMID: 12746399 Free PMC article. No abstract available.

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